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Washington, Fred Hutch Studies Find New Blood Cell Variants

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Researchers have identified 16 new red blood cell variants and 16 new white blood cell variants that may be associated with diabetes, anemia or even Alzheimer’s, according to a pair of studies led by the University of Washington School of Public Health and the Fred Hutchinson Cancer Research Center.

[Photo: Dr. Alexander Reiner]

In the studies, published recently in the American Journal of Human Genetics, researchers analyzed red blood cell traits in 130,273 individuals and white blood cell traits in 157,622 individuals. Researchers accessed the large, multi-ethnic groups through the Blood Cell Consortium, an international collaboration working to identify common and rare blood cell variants using exome genotyping arrays.

“The results show that a continuum of alleles, ranging from rare to common, influence these traits,” said lead author Dr. Alexander Reiner, a research professor of epidemiology at the School and core member of the Public Health Sciences Division at Fred Hutch. “This highlights the complexity of the genetic architecture of blood cell phenotypes.”

Many of the identified red blood cell variants and a majority of white blood cell variants appear to have shared or pleiotropic effects with various disease states, Dr. Reiner noted. Pleiotropy occurs when one gene influences two or more seemingly unrelated phenotypic traits.

“In particular, many of the genetic variants associated with white blood cell subtypes are also associated with autoimmune or chronic inflammatory diseases, such as inflammatory bowel disease or Alzheimer’s,” Dr. Reiner said.

Researchers also found genetic variants with red blood cell traits that could be associated with type 1 diabetes or a genetic disease that could cause cerebellar disorders. In African-Americans, researchers identified a variant that could be associated with blood abnormalities and severe bleeding disorders.

From a clinical and public health standpoint, Dr. Reiner adds, “the information gained from these genetic studies may provide guidance for the development of new therapeutic agents targeted for hematologic, autoimmune or thrombotic diseases.”